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Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertrophy of the stratum granulosum of the cerebellum. It is often associated with Cowden syndrome and is pathognomonic for this disease[1]. It was described by Jacques Jean Lhermitte and P. Duclos in 1920[2].
Lhermitte-Duclos disease is a rare entity; approximately 220 cases of LDD have been reported in medical literature[3]. It’s most common in 3. and 4. decade of life.
Cowden disease is caused by mutations of PTEN gene.
Main clinical signs are:
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